Neurogenetics DNA Diagnostic Laboratory: Autosomal Dominant Hereditary Sensory Neuropathy Type 1A (SPTLC1, HSN1A)

  • Phone: 617-726-5721

Test Description

We currently offer DNA mutation analysis of the SPTLC1 gene using PCR amplification and direct DNA sequencing of the coding exons.  Missense mutations have been reported in the SPTLC1gene.

Sample Preparation: Sample Preparation (PDF)

Results

Results of DNA analysis will be communicated in a written report to the referring professional.

Reason

DNA analysis is appropriate for the study of affected patients, for diagnostic confirmation in a suspected affected patient, and in prenatal testing situations after the family mutation has been identified in the proband. 


Updated 8/2/2012